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VPS16 - VPS16 core subunit of CORVET and HOPS complexes Gene

Also Known as DYT30; hVPS16

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 64601

About VPS16

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:2,840,745-2,866,732 (from NCBI)

This gene has 8 transcripts (splice variants), 199 orthologues and is associated with 1 phenotype. Ubiquitous expression in appendix (RPKM 12.2), thyroid (RPKM 11.8) and 25 other tissues.

Summary

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

VPS16 Products (2)

mRNA	Protein	Name
NM_022575.4	NP_072097.2	vacuolar protein sorting-associated protein 16 homolog isoform 1
NM_080413.3	NP_536338.1	vacuolar protein sorting-associated protein 16 homolog isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	11382755	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in autophagosome maturation	IMP IMP: Inferred from mutant phenotype	25783203	GOA
involved in endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	25783203	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
part of HOPS complex	IDA IDA: Inferred from direct assay	19109425	GOA
located in early endosome	IDA IDA: Inferred from direct assay	19109425	GOA
located in late endosome	IDA IDA: Inferred from direct assay	11382755	GOA
located in lysosome	IDA IDA: Inferred from direct assay	11382755	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	19109425	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VPS16 Protein Structure

Vps16_N

Vps16_C

0
200
400
600
800
839 a.a.

Protein Preferred Names	Protein Names
vacuolar protein sorting-associated protein 16 homolog	VPS16, CORVET/HOPS core subunit

VPS16 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	VPS16	Q9H269	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	25783203
Intra	VPS16	Q9H269	VPS18	Homo sapiens	Q9P253	Anti Bait CoIP	11382755
Intra	VPS16	Q9H269	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	23901104
Intra	VPS16	Q9H269	VPS18	Homo sapiens	Q9P253	Y2H	23901104
Intra	VPS16	Q9H269	VPS18	Homo sapiens	Q9P253	Anti Tag CoIP	26496610
Intra	VPS16	Q9H269	VPS33A	Homo sapiens	Q96AX1	Anti Tag CoIP	25783203
Intra	VPS16	Q9H269	VPS33A	Homo sapiens	Q96AX1	Anti Tag CoIP	35271311
Intra	VPS16	Q9H269	VPS33A	Homo sapiens	Q96AX1	Pull Down	23901104
Intra	VPS16	Q9H269	VPS33A	Homo sapiens	Q96AX1	Anti Tag CoIP	33961781
Intra	VPS16	Q9H269	VPS33A	Homo sapiens	Q96AX1	Anti Tag CoIP	26496610
Intra	VPS16	Q9H269	VPS33A	Homo sapiens	Q96AX1	Anti Tag CoIP	33422265
Intra	VPS16	Q9H269	VPS33A	Homo sapiens	Q96AX1	Anti Tag CoIP	23901104
Intra	VPS16	Q9H269	STX17	Homo sapiens	P56962	Anti Tag CoIP	24554770
Intra	VPS16	Q9H269	TGFBRAP1	Homo sapiens	Q8WUH2	Anti Tag CoIP	26496610
Intra	VPS16	Q9H269	VPS11	Homo sapiens	Q9H270	Anti Tag CoIP	26496610
Intra	VPS16	Q9H269	VPS11	Homo sapiens	Q9H270	Anti Tag CoIP	35271311
Intra	VPS16	Q9H269	VPS11	Homo sapiens	Q9H270	Y2H	23901104
Intra	VPS16	Q9H269	VPS11	Homo sapiens	Q9H270	Anti Bait CoIP	11382755

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Dystonia 30	DYT30
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Smith-Mccort Dysplasia 1	Smith-Mccort Dysplasia SMC1 Smc Smith Mccort Dysplasia Smith-Mccort Dwarfism
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hereditary Sensory And Autonomic Neuropathy Type 2 Hsan2 HSAN2A Morvan Disease Hereditary Sensory And Autonomic Neuropathy Type Ii Neurogenic Acroosteolysis Hsan Iia Hsn2a Hsn Iia Neuropathy, Progressive Sensory, Of Children Neuropathy, Congenital Sensory Neuropathy, Hereditary Sensory And Autonomic, Type Ii Hereditary Sensory And Autonomic Neuropathy Type 2a Hereditary Sensory And Autonomic Neuropathy Type Iia Hsanii Congenital Sensory Neuropathy Hsan Type Ii Morvan Syndrome Neuropathy, Hereditary Sensory And Autonomic, Type 2a Morvan'S Disease Neuropathy, Hereditary Sensory, Type Iia Acroosteolysis, Neurogenic Acroosteolysis, Giaccai Type Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive Hereditary Sensory Autonomic Neuropathy Type 2 Giaccai Type Acroosteolysis Hereditary Sensory Neuropathy Type 2 Hereditary Sensory Radicular Neuropathy, Recessive Form Hsan2b Hsan2c Hsan2d Hsn Type Ii Autosomal Recessive Sensory Radicular Neuropathy Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome Morvan Fibrillary Chorea Neuropathy, Hereditary Sensory And Autonomic, 2a Acroosteolysis Giaccai Type Hereditary Sensory Neuropathy Type Iia Hereditary Sensory Radicular Neuropathy Autosomal Recessive Progressive Sensory Neuropathy Of Children Neuropathy Congenital Sensory Charcot-Marie-Tooth Disease Neuropathy, Sensory And Autonomic, Hereditary, Type Iia Hereditary Sensory Autonomic Neuropathy, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii Sensory Neuropathy, Hereditary Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arc Syndrome ARCS1 Arthrogryposis Renal Dysfunction Cholestasis Syndrome Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome Arcs Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, And Cholestasis Arthrogryposis-Renal Dysfunction-Cholestasis Arthrogryposis - Renal Dysfunction - Cholestasis Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1 Arthrogryposis Renal Dysfunction And Cholestasis 1 Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 Kidney Failure Renal Insufficiency
Dyggve-Melchior-Clausen Disease	Dyggve-Melchior-Clausen Syndrome DMC Dmc Disease Pseudo-Morquio Disease Type I Dmc Syndrome
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS15676	VPS16 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	VPS16	VGNC	VGNC:66958
Rattus norvegicus	VPS16	RGD	RGD:1359414
Bos taurus	VPS16	VGNC	VGNC:36811
Mus musculus	VPS16	MGD	MGI:2136772
Canis familiaris	VPS16	VGNC	VGNC:48278
Macaca mulatta	VPS16	VGNC	VGNC:78966
Others	VPS16	NCBI